Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
3.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981895
4.
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
Cancer Control
; 30: 10732748221144930, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36598023
5.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Clin Genet
; 102(2): 142-148, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575217
6.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
7.
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease.
FASEB J
; 35(3): e21424, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33609323
8.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Am J Med Genet A
; 188(10): 2920-2931, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869874
9.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
10.
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Am J Med Genet A
; 182(11): 2746-2750, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945094
11.
Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?
Am J Med Genet A
; 182(8): 1972-1976, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573107
12.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Am J Med Genet A
; 182(8): 1977-1984, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573066
13.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677142
14.
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
Am J Med Genet A
; 173(9): 2353-2358, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631895
15.
Nomenclature and definition in asymmetric regional body overgrowth.
Am J Med Genet A
; 173(7): 1735-1738, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475229
16.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
17.
Ancient Romans and Down Syndrome.
Pediatr Res
; 90(6): 1266-1267, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531671
18.
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
Am J Med Genet A
; 167(7): 1637-43, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820919
19.
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH).
Pediatr Cardiol
; 41(6): 1242-1243, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518962
20.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Genes (Basel)
; 15(4)2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674442